No abstract available.
Child* ; Chromosome Aberrations* ; Cytogenetic Analysis* ; Cytogenetics* ; Humans

Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders. Array CGH is currently used as the standard procedure for molecular cytogenetic analysis. Array CGH can detect various submicroscopic genomic rearrangements involving exons or enhancers of disease-associated genes. This review introduces some examples of the use of NGS and array CGH for the molecular diagnosis of pediatric endocrine disorders.
Comparative Genomic Hybridization* ; Cytogenetic Analysis ; Diagnosis* ; Exome ; Exons ; Mass Screening

Molecular cytogenetics allows the identification of unknown chromosome rearrangements, which is clinically useful in patients with mental retardation and/or development delay. We report on a 31-year- old woman with severe mental retardation, behavior development delay, and verbal performance delay. Conventional cytogenetic analysis showed a 46,XX,add(8)(p23.3) karyotype. To determine the origin of this unbalanced translocation, we performed array CGH and subtelomeric FISH. The results showed that the distal region of chromosome 8p was added to the terminal of chromosome 13q. This was confirmed the final result of 46,XX,der(8)t(8:13)(p23.3;q32.1)dn.
Cytogenetic Analysis ; Cytogenetics ; Female ; Humans ; Intellectual Disability ; Karyotype

No abstract available.
Carcinoma, Transitional Cell* ; Cytogenetic Analysis* ; Cytogenetics* ; Urinary Bladder*

Chromosome Aberrations ; Cytogenetic Analysis ; standards ; Humans ; Multiple Myeloma ; diagnosis ; genetics

Chromosome analysis has been widely used in clinics including prenatal diagnosis. To obtain high-quality metaphase chromosomes, researchers have attempted to modify the methods for chromosome culture, preparation and analysis. Some large research centers also tried to establish standards for quality control. In this paper, modification of methods for the preparation of chromosomes in the last decade is reviewed.
Cells, Cultured ; Chromosomes, Human ; Cytogenetic Analysis ; Humans ; Karyotyping ; Metaphase

Detecting malignant cells in ascitic fluid from tumor patients is important since the existence of malignant cells in ascitic fluids is related to the prognosis of patients. Various laboratory methods are being used to obtain diagnosis in ascitic fluids, but some ascitic fluids can not be diagnosed reliably. Cytogenetic analysis of ascitic fluid is not used routinely as a laboratory tool. In this presentation a cytogenetic study of the ascitic fluids from 9 patients with malignant tumor was performed by a direct or short-term culture method. According to cytogenetic study, 5 cases had positive findings for malignant cells. One case had a inconclusive result. There were no malignant cells in the remaining 4 cases. On blind cytologic data, no informations could be obtained in 4 out of 9 cases and the remaining 5 cases had negative findings for detecting malignant cells. Among the 5 cases, cytogenetic findings were negative in 3 cases but in the remaining 2 cases, one was reported positive and the other inconclusive each other. In present study, even though the ascitic fluids from 5 patients were subjected to the comparison of the cytologic study with cytogenetic analysis, two different findings could be obtained. Therefore if further study of a large series of cancer patients with ascitic fluids is done, the value of cytogenetic analysis will be clearly shown. In addition, the cytogenetic study of cell present in ascitic fluids can be used as useful adjunct to cytologic study, and also it can indicate that more invasive diagnostic procedures are necessary.
Ascitic Fluid* ; Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Humans ; Prognosis

No abstract available.
Cytogenetic Analysis* ; Cytogenetics* ; Urinary Bladder Neoplasms* ; Urinary Bladder*

Background. Accidental radiation exposure can occur anytime. Biodosimeters help in quantifying the absorbed dose of individuals who are not equipped with personal dosimeters during radiation exposure. The dicentric assay can quantify radiation damage by correlating radiation dose exposure with the frequency of dicentric chromosomes in the peripheral lymphocytes extracted from exposed individuals. Objective. The study aims to present the interim results of the reference dose-response curve for a Philippine radiotherapy facility constructed using a 6MV linear accelerator (ClinacX, Varian). Methods. Samples of peripheral blood from healthy volunteers were irradiated in a customized water phantom of doses 0.10 to 5.0 Gray using a linear accelerator. The irradiated samples were cultured and analyzed following the International Atomic Energy Agency Cytogenetic Dosimetry Protocol (2011) with modifications. Linear-quadratic model curve fitting and further statistical analysis were done using CABAS (Chromosome Aberration Calculation Software Version 2.0) and Dose Estimate (Version 5.2). Interim results of the samples were used to generate these curves. Results. The dose-response curve generated from the preliminary results were comparable to published dose response curves from international cytogenetic laboratories. Conclusion. The generated dose-response calibration curve will be useful for medical triage of the public and radiologic staff accidentally exposed to radiation during medical procedures or in the event of nuclear accidents.
Cytogenetics ; Biological Assay ; Chromosome Disorders ; Cytogenetic Analysis ; Radiation

PURPOSE: This study was aimed to evaluate the incidence and karyotypes according to chromosome in 13 cases with inversion detected by cytogenetic analysis. METHODS: The incidence of inversion was calculated and karyotypes of inversion were classified according to each chromosome in cases with inversion detected from 390 individuals who had undergone cytogenetic analysis in Hanyang University Hospital from January 2005 to February 2009. RESULTS: The overall incidence of inversions was 3.3% (13/390). All of 13 cases were heterozygotes for inversions. Among these 13 inversions, 12 cases (92.3%) were having pericentric inversions showing karyotypes of 46,XX,inv(9)(p11q13) in 7 cases, 46,XX,inv(9)(p11q12) in 2 cases, and one cases of 46,X, inv(Y)(p11.3q11.23), t(8;9)(q24.3;q34.1), 46,X, del(Y)(q12), inv(Y)(p10q11. 23) and 46,XY, inv(8)(p21q24.1) respectively. Last one case (7.7%) was having paracentric inversion showing a karyotype of 46,XX,inv(9)(q22.1q34.3). Classification according to each chromosome in 13 cases with inversion was that 10 of 13 cases (76.9%) were located in chromosome 9 (9 cases of pericentric inversions and a case of paracentric inversions), 2 of 13 cases (15.4%) in chromosome Y and 1 of 13 cases (7.7%) in chromosome 8. CONCLUSION: Although patients are phenotypically normal, they might be inversion carriers. In high risk patients, inversions are more frequent than normal population. Various types of inversion could be in different chromosomes. Classification of types of inversion are needed for further genetic counseling according to the types.
Chromosomes, Human, Pair 9 ; Cytogenetic Analysis ; Cytogenetics ; Genetic Counseling ; Heterozygote ; Humans ; Incidence ; Karyotype